Detalhe da pesquisa
1.
Rare germline variants in PALB2 and BRCA2 in familial and sporadic chordoma.
Hum Mutat
; 43(10): 1396-1407, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35762214
2.
Epidemiological and ES cell-based functional evaluation of BRCA2 variants identified in families with breast cancer.
Hum Mutat
; 42(2): 200-212, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33314489
3.
Functional evaluation of five BRCA2 unclassified variants identified in a Sri Lankan cohort with inherited cancer syndromes using a mouse embryonic stem cell-based assay.
Breast Cancer Res
; 22(1): 43, 2020 05 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32393398
4.
Bypass of premature stop codons and generation of functional BRCA2 by exon skipping.
J Hum Genet
; 65(9): 805-809, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32393813
5.
Functional evaluation of BRCA2 variants mapping to the PALB2-binding and C-terminal DNA-binding domains using a mouse ES cell-based assay.
Hum Mol Genet
; 21(18): 3993-4006, 2012 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22678057
6.
A comprehensive functional characterization of BRCA2 variants associated with Fanconi anemia using mouse ES cell-based assay.
Blood
; 118(9): 2430-42, 2011 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-21719596
7.
Sequencing-based functional assays for classification of BRCA2 variants in mouse ESCs.
Cell Rep Methods
; 3(11): 100628, 2023 Nov 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-37922907
8.
The Combination of Trametinib and Ganitumab is Effective in RAS-Mutated PAX-Fusion Negative Rhabdomyosarcoma Models.
Clin Cancer Res
; 29(2): 472-487, 2023 01 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-36322002
9.
Myopathy associated LDB3 mutation causes Z-disc disassembly and protein aggregation through PKCα and TSC2-mTOR downregulation.
Commun Biol
; 4(1): 355, 2021 03 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-33742095
10.
A novel mouse model of PMS2 founder mutation that causes mismatch repair defect due to aberrant splicing.
Cell Death Dis
; 12(9): 838, 2021 09 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34489406
11.
A computational model for classification of BRCA2 variants using mouse embryonic stem cell-based functional assays.
NPJ Genom Med
; 5(1): 52, 2020 Dec 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33293522
12.
Functional redundancy of exon 12 of BRCA2 revealed by a comprehensive analysis of the c.6853A>G (p.I2285V) variant.
Hum Mutat
; 30(11): 1543-50, 2009 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-19795481
13.
A BAR domain in the N terminus of the Arf GAP ASAP1 affects membrane structure and trafficking of epidermal growth factor receptor.
Curr Biol
; 16(2): 130-9, 2006 Jan 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-16431365
14.
Label-free global serum proteomic profiling reveals novel celecoxib-modulated proteins in familial adenomatous polyposis patients.
Cancer Genomics Proteomics
; 6(1): 41-9, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19451089
15.
Mutational analysis of the Arf1*GTP/Arf GAP interface reveals an Arf1 mutant that selectively affects the Arf GAP ASAP1.
Curr Biol
; 15(23): 2164-9, 2005 Dec 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-16332543
16.
Altered gene expression profiles define pathways in colorectal cancer cell lines affected by celecoxib.
Cancer Epidemiol Biomarkers Prev
; 17(11): 3051-61, 2008 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-18957522
17.
Acquired cross-linker resistance associated with a novel spliced BRCA2 protein variant for molecular phenotyping of BRCA2 disruption.
Cell Death Dis
; 8(6): e2875, 2017 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28617445
18.
Regulation of ASAP1 by phospholipids is dependent on the interface between the PH and Arf GAP domains.
Cell Signal
; 17(10): 1276-88, 2005 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-16038802
19.
Synthetic viability by BRCA2 and PARP1/ARTD1 deficiencies.
Nat Commun
; 7: 12425, 2016 08 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27498558
20.
Preparation of myristoylated Arf1 and Arf6.
Methods Enzymol
; 404: 164-74, 2005.
Artigo
em Inglês
| MEDLINE | ID: mdl-16413267